If a variant has more than one submission, it may be counted in more than one significance column. If this is the
case, the total number of variants will be less than the sum of the other cells.
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
266
|
211
|
243
|
18
|
1
|
739
|
Gene and significance breakdown #
Total genes and gene combinations: 254
Gene or gene combination |
pathogenic |
likely pathogenic |
uncertain significance |
likely benign |
benign |
total |
DYRK1A
|
18
|
2
|
1
|
1
|
1
|
23
|
ANKRD11
|
10
|
1
|
4
|
0 |
0 |
15
|
DDX3X
|
10
|
3
|
2
|
0 |
0 |
15
|
SCN2A
|
3
|
7
|
3
|
0 |
0 |
13
|
KCNQ2
|
3
|
6
|
3
|
0 |
0 |
12
|
SCN1A
|
4
|
3
|
5
|
0 |
0 |
12
|
GRIN2B
|
4
|
7
|
0 |
0 |
0 |
11
|
MED13L
|
7
|
3
|
1
|
0 |
0 |
11
|
SHANK3
|
9
|
1
|
1
|
0 |
0 |
11
|
CHD2
|
4
|
6
|
0 |
0 |
0 |
10
|
ARID1B
|
7
|
0 |
1
|
1
|
0 |
9
|
HUWE1
|
0 |
2
|
7
|
0 |
0 |
9
|
MECP2
|
5
|
2
|
0 |
2
|
0 |
9
|
POGZ
|
3
|
6
|
0 |
0 |
0 |
9
|
SMARCA2
|
1
|
5
|
3
|
0 |
0 |
9
|
DYNC1H1
|
1
|
1
|
6
|
0 |
0 |
8
|
GRIN1
|
1
|
4
|
3
|
0 |
0 |
8
|
KMT2A
|
5
|
2
|
1
|
0 |
0 |
8
|
MYT1L
|
4
|
3
|
1
|
0 |
0 |
8
|
SLITRK2
|
0 |
5
|
3
|
0 |
0 |
8
|
STXBP1
|
4
|
2
|
2
|
0 |
0 |
8
|
AGO1
|
0 |
7
|
0 |
0 |
0 |
7
|
CASK
|
0 |
3
|
4
|
0 |
0 |
7
|
DEPDC5
|
2
|
1
|
4
|
0 |
0 |
7
|
KDM5C
|
4
|
1
|
2
|
0 |
0 |
7
|
SYNGAP1
|
1
|
4
|
2
|
0 |
0 |
7
|
TRIO
|
0 |
2
|
5
|
0 |
0 |
7
|
ADNP
|
4
|
0 |
2
|
0 |
0 |
6
|
CREBBP
|
4
|
2
|
0 |
0 |
0 |
6
|
MBD5
|
3
|
0 |
3
|
0 |
0 |
6
|
SCN8A
|
1
|
0 |
5
|
0 |
0 |
6
|
ZBTB20
|
4
|
1
|
0 |
1
|
0 |
6
|
ZNF292
|
0 |
4
|
2
|
0 |
0 |
6
|
ARHGEF9
|
0 |
0 |
5
|
0 |
0 |
5
|
FOXP1
|
2
|
3
|
0 |
0 |
0 |
5
|
HCN1
|
0 |
0 |
5
|
0 |
0 |
5
|
KAT6A
|
4
|
0 |
1
|
0 |
0 |
5
|
KCNQ3
|
3
|
0 |
1
|
1
|
0 |
5
|
NEXMIF
|
2
|
2
|
1
|
0 |
0 |
5
|
SATB2
|
5
|
0 |
0 |
0 |
0 |
5
|
SNHG14, UBE3A
|
2
|
1
|
1
|
1
|
0 |
5
|
TBR1
|
2
|
1
|
2
|
0 |
0 |
5
|
AP4M1
|
4
|
0 |
0 |
0 |
0 |
4
|
ASXL3
|
2
|
0 |
2
|
0 |
0 |
4
|
EHMT1
|
3
|
0 |
1
|
0 |
0 |
4
|
FLNA
|
1
|
0 |
3
|
0 |
0 |
4
|
GABRB3
|
0 |
2
|
2
|
0 |
0 |
4
|
GABRG2
|
0 |
2
|
2
|
0 |
0 |
4
|
GRIA3
|
1
|
0 |
2
|
1
|
0 |
4
|
GRIN2A
|
0 |
3
|
1
|
0 |
0 |
4
|
IQSEC2
|
3
|
1
|
0 |
0 |
0 |
4
|
KANSL1
|
3
|
0 |
1
|
0 |
0 |
4
|
KAT6B
|
4
|
0 |
0 |
0 |
0 |
4
|
KCNB1
|
3
|
1
|
0 |
0 |
0 |
4
|
KMT2D
|
2
|
0 |
2
|
0 |
0 |
4
|
LOC102724058, SCN1A
|
1
|
0 |
3
|
0 |
0 |
4
|
NEDD4L
|
0 |
1
|
2
|
1
|
0 |
4
|
RAI1
|
3
|
1
|
0 |
0 |
0 |
4
|
SETD5
|
1
|
2
|
1
|
0 |
0 |
4
|
SLC6A1
|
1
|
3
|
0 |
0 |
0 |
4
|
TRIP12
|
1
|
2
|
1
|
0 |
0 |
4
|
ASNS, CZ1P-ASNS
|
0 |
3
|
0 |
0 |
0 |
3
|
AUTS2
|
0 |
1
|
2
|
0 |
0 |
3
|
BRPF1
|
2
|
0 |
1
|
0 |
0 |
3
|
CACNA1C
|
0 |
1
|
2
|
0 |
0 |
3
|
CHD8
|
3
|
0 |
0 |
0 |
0 |
3
|
CNKSR2
|
1
|
0 |
2
|
0 |
0 |
3
|
CNTNAP2
|
0 |
1
|
2
|
0 |
0 |
3
|
DCX
|
1
|
0 |
2
|
0 |
0 |
3
|
DNMT3A
|
0 |
2
|
1
|
0 |
0 |
3
|
EP300
|
2
|
0 |
1
|
0 |
0 |
3
|
FMR1
|
3
|
0 |
0 |
0 |
0 |
3
|
GABBR2
|
0 |
1
|
2
|
0 |
0 |
3
|
HDAC4
|
0 |
0 |
2
|
1
|
0 |
3
|
MED12
|
0 |
0 |
3
|
0 |
0 |
3
|
MEF2C
|
2
|
1
|
0 |
0 |
0 |
3
|
PAK3
|
0 |
0 |
3
|
0 |
0 |
3
|
PNKP
|
2
|
1
|
0 |
0 |
0 |
3
|
PTPN11
|
0 |
2
|
1
|
0 |
0 |
3
|
RPS6KA3
|
1
|
2
|
0 |
0 |
0 |
3
|
SETBP1
|
1
|
2
|
0 |
0 |
0 |
3
|
SLC9A6
|
1
|
0 |
1
|
1
|
0 |
3
|
SYN1
|
0 |
1
|
2
|
0 |
0 |
3
|
TAF1
|
0 |
2
|
1
|
0 |
0 |
3
|
TBL1XR1
|
0 |
3
|
0 |
0 |
0 |
3
|
TCF4
|
2
|
0 |
1
|
0 |
0 |
3
|
TSC2
|
0 |
0 |
3
|
0 |
0 |
3
|
USP9X
|
0 |
0 |
3
|
0 |
0 |
3
|
WDR45
|
1
|
1
|
1
|
0 |
0 |
3
|
ZDHHC9
|
0 |
2
|
1
|
0 |
0 |
3
|
ACTB
|
1
|
1
|
0 |
0 |
0 |
2
|
AGO1, LOC129930123
|
0 |
2
|
0 |
0 |
0 |
2
|
AHDC1
|
1
|
1
|
0 |
0 |
0 |
2
|
ALDH18A1
|
0 |
2
|
0 |
0 |
0 |
2
|
ALG13
|
1
|
0 |
1
|
0 |
0 |
2
|
AP4S1
|
2
|
0 |
0 |
0 |
0 |
2
|
ARX
|
0 |
0 |
2
|
0 |
0 |
2
|
ATRX
|
1
|
0 |
1
|
0 |
0 |
2
|
CAMK2B
|
0 |
1
|
0 |
1
|
0 |
2
|
CDKL5
|
1
|
0 |
1
|
0 |
0 |
2
|
CLCN4
|
0 |
0 |
2
|
0 |
0 |
2
|
COL4A1
|
1
|
1
|
0 |
0 |
0 |
2
|
CTCF
|
0 |
1
|
1
|
0 |
0 |
2
|
CTNNB1, LOC126806659
|
2
|
0 |
0 |
0 |
0 |
2
|
CUL3
|
0 |
0 |
2
|
0 |
0 |
2
|
CUL4B
|
1
|
0 |
1
|
0 |
0 |
2
|
DEAF1
|
0 |
0 |
1
|
1
|
0 |
2
|
DNAH1
|
2
|
0 |
0 |
0 |
0 |
2
|
DSCAM
|
0 |
0 |
2
|
0 |
0 |
2
|
EEF1A2
|
0 |
1
|
1
|
0 |
0 |
2
|
FOXG1
|
0 |
2
|
0 |
0 |
0 |
2
|
FTSJ1
|
1
|
0 |
1
|
0 |
0 |
2
|
GABRA1
|
0 |
2
|
0 |
0 |
0 |
2
|
GATAD2B
|
2
|
0 |
0 |
0 |
0 |
2
|
GPC3
|
0 |
0 |
2
|
0 |
0 |
2
|
HBA-LCR, NPRL3
|
1
|
1
|
0 |
0 |
0 |
2
|
HCFC1
|
1
|
0 |
1
|
0 |
0 |
2
|
HDAC8
|
1
|
0 |
1
|
0 |
0 |
2
|
HERC1
|
0 |
0 |
2
|
0 |
0 |
2
|
HIVEP2
|
0 |
2
|
0 |
0 |
0 |
2
|
HNRNPU
|
1
|
0 |
1
|
0 |
0 |
2
|
HUWE1, LOC126863263
|
0 |
0 |
1
|
1
|
0 |
2
|
IL1RAPL1
|
1
|
1
|
0 |
0 |
0 |
2
|
KCNC1
|
0 |
0 |
2
|
0 |
0 |
2
|
KDM6A
|
0 |
0 |
1
|
1
|
0 |
2
|
L1CAM
|
0 |
1
|
1
|
0 |
0 |
2
|
NAA10
|
1
|
1
|
0 |
0 |
0 |
2
|
NF1
|
2
|
0 |
0 |
0 |
0 |
2
|
NFIX
|
0 |
2
|
0 |
0 |
0 |
2
|
NIPBL
|
0 |
1
|
1
|
0 |
0 |
2
|
NLGN3
|
0 |
1
|
1
|
0 |
0 |
2
|
NRXN2
|
0 |
0 |
2
|
0 |
0 |
2
|
NSD1
|
1
|
0 |
1
|
0 |
0 |
2
|
PAFAH1B1
|
0 |
2
|
0 |
0 |
0 |
2
|
PCDH19
|
0 |
1
|
1
|
0 |
0 |
2
|
PIK3CA
|
2
|
0 |
0 |
0 |
0 |
2
|
PMM2
|
2
|
0 |
0 |
0 |
0 |
2
|
PTEN
|
0 |
1
|
1
|
0 |
0 |
2
|
PURA
|
1
|
0 |
1
|
0 |
0 |
2
|
RELN
|
0 |
0 |
1
|
1
|
0 |
2
|
SCN3A
|
0 |
0 |
2
|
0 |
0 |
2
|
SLC2A1
|
1
|
1
|
0 |
0 |
0 |
2
|
SLC6A8
|
2
|
0 |
0 |
0 |
0 |
2
|
SOX5
|
0 |
1
|
1
|
0 |
0 |
2
|
SPTAN1
|
0 |
0 |
2
|
0 |
0 |
2
|
ST3GAL3
|
0 |
0 |
2
|
0 |
0 |
2
|
ST3GAL5
|
1
|
1
|
0 |
0 |
0 |
2
|
TUBA1A
|
0 |
2
|
0 |
0 |
0 |
2
|
TUBB2A
|
1
|
0 |
1
|
0 |
0 |
2
|
TUBB3
|
1
|
1
|
0 |
0 |
0 |
2
|
UPF3B
|
0 |
1
|
1
|
0 |
0 |
2
|
WDR62
|
0 |
2
|
0 |
0 |
0 |
2
|
ZEB2
|
1
|
1
|
0 |
0 |
0 |
2
|
ACSL4
|
0 |
0 |
1
|
0 |
0 |
1
|
ADGRG1
|
1
|
0 |
0 |
0 |
0 |
1
|
ALDH5A1
|
0 |
1
|
0 |
0 |
0 |
1
|
ARID1A
|
0 |
0 |
1
|
0 |
0 |
1
|
ARID1B, LOC115308161
|
0 |
0 |
1
|
0 |
0 |
1
|
ATXN3L, GS1-600G8.3
|
0 |
0 |
0 |
1
|
0 |
1
|
BCKDHA
|
0 |
0 |
1
|
0 |
0 |
1
|
BCL11A
|
0 |
1
|
0 |
0 |
0 |
1
|
BPTF
|
0 |
0 |
1
|
0 |
0 |
1
|
CAMTA1
|
1
|
0 |
0 |
0 |
0 |
1
|
CFAP43
|
1
|
0 |
0 |
0 |
0 |
1
|
CHD2, LOC126862230
|
0 |
1
|
0 |
0 |
0 |
1
|
CLTC, LOC126862609
|
0 |
0 |
1
|
0 |
0 |
1
|
CPS1
|
0 |
0 |
1
|
0 |
0 |
1
|
CSNK2A1
|
0 |
1
|
0 |
0 |
0 |
1
|
CTNNB1
|
1
|
0 |
0 |
0 |
0 |
1
|
CTNNB1, LOC126806658
|
1
|
0 |
0 |
0 |
0 |
1
|
DLG3
|
1
|
0 |
0 |
0 |
0 |
1
|
DMD
|
0 |
0 |
1
|
0 |
0 |
1
|
DSCAM, LOC126653376
|
0 |
0 |
1
|
0 |
0 |
1
|
DYNC1H1, LOC130056502
|
0 |
1
|
0 |
0 |
0 |
1
|
EHMT1, LOC130003148
|
1
|
0 |
0 |
0 |
0 |
1
|
FGD1
|
0 |
0 |
1
|
0 |
0 |
1
|
FLNA, LOC107988032
|
0 |
0 |
1
|
0 |
0 |
1
|
GALNTL5
|
0 |
1
|
0 |
0 |
0 |
1
|
GCH1
|
1
|
0 |
0 |
0 |
0 |
1
|
GDI1
|
0 |
0 |
1
|
0 |
0 |
1
|
GNB1
|
1
|
0 |
0 |
0 |
0 |
1
|
GRIN2D
|
0 |
0 |
1
|
0 |
0 |
1
|
HCN2
|
0 |
0 |
1
|
0 |
0 |
1
|
HFM1
|
1
|
0 |
0 |
0 |
0 |
1
|
HRAS, LRRC56
|
0 |
0 |
1
|
0 |
0 |
1
|
IGF1R
|
0 |
0 |
1
|
0 |
0 |
1
|
ITPR1
|
0 |
1
|
0 |
0 |
0 |
1
|
KCNH1
|
1
|
0 |
0 |
0 |
0 |
1
|
KCNMA1
|
0 |
1
|
0 |
0 |
0 |
1
|
KCNQ5
|
0 |
0 |
1
|
0 |
0 |
1
|
KCNT1
|
1
|
0 |
0 |
0 |
0 |
1
|
KDM5C, LOC130068308
|
0 |
0 |
1
|
0 |
0 |
1
|
KIF1A
|
0 |
1
|
0 |
0 |
0 |
1
|
KIF2A
|
0 |
1
|
0 |
0 |
0 |
1
|
KLHL10
|
1
|
0 |
0 |
0 |
0 |
1
|
KMT2C
|
0 |
0 |
1
|
0 |
0 |
1
|
LAMC3
|
0 |
0 |
1
|
0 |
0 |
1
|
LAMP2
|
0 |
0 |
1
|
0 |
0 |
1
|
LGI1
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC125467768, PCDH19
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC126806462, SATB2
|
1
|
0 |
0 |
0 |
0 |
1
|
LOC126806878, TBL1XR1
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC126863256, WDR45
|
0 |
0 |
1
|
0 |
0 |
1
|
LOC129994826, PURA
|
0 |
1
|
0 |
0 |
0 |
1
|
LOC130056977, PATL2
|
1
|
0 |
0 |
0 |
0 |
1
|
MAGEL2
|
0 |
1
|
0 |
0 |
0 |
1
|
MED17
|
0 |
0 |
1
|
0 |
0 |
1
|
MED23
|
0 |
1
|
0 |
0 |
0 |
1
|
MVP-DT, PRRT2
|
0 |
0 |
1
|
0 |
0 |
1
|
NLGN4X
|
0 |
0 |
1
|
0 |
0 |
1
|
NOVA2
|
1
|
0 |
0 |
0 |
0 |
1
|
NPRL2
|
1
|
0 |
0 |
0 |
0 |
1
|
NR2F1
|
0 |
1
|
0 |
0 |
0 |
1
|
NRXN1
|
0 |
0 |
1
|
0 |
0 |
1
|
OPHN1
|
1
|
0 |
0 |
0 |
0 |
1
|
PABPC1L
|
1
|
0 |
0 |
0 |
0 |
1
|
PHF21A
|
0 |
1
|
0 |
0 |
0 |
1
|
PHF6
|
0 |
1
|
0 |
0 |
0 |
1
|
PHF8
|
1
|
0 |
0 |
0 |
0 |
1
|
PIGA
|
0 |
0 |
1
|
0 |
0 |
1
|
PLP1, RAB9B
|
0 |
1
|
0 |
0 |
0 |
1
|
POMGNT1, TSPAN1
|
0 |
0 |
1
|
0 |
0 |
1
|
PPP2R5D
|
0 |
1
|
0 |
0 |
0 |
1
|
PPP3CA
|
0 |
0 |
1
|
0 |
0 |
1
|
PQBP1
|
0 |
1
|
0 |
0 |
0 |
1
|
PREPL, SLC3A1
|
0 |
1
|
0 |
0 |
0 |
1
|
PSMD12
|
0 |
1
|
0 |
0 |
0 |
1
|
PTCHD1
|
0 |
1
|
0 |
0 |
0 |
1
|
RELN, SLC26A5
|
0 |
0 |
1
|
0 |
0 |
1
|
RNF113A
|
0 |
1
|
0 |
0 |
0 |
1
|
RORB
|
0 |
0 |
1
|
0 |
0 |
1
|
SETD1A
|
0 |
1
|
0 |
0 |
0 |
1
|
SHANK1
|
0 |
0 |
0 |
1
|
0 |
1
|
SHANK2
|
0 |
0 |
1
|
0 |
0 |
1
|
SKI
|
0 |
0 |
1
|
0 |
0 |
1
|
SLC16A2
|
1
|
0 |
0 |
0 |
0 |
1
|
SMAD4
|
1
|
0 |
0 |
0 |
0 |
1
|
SMARCB1
|
0 |
0 |
1
|
0 |
0 |
1
|
SMARCE1
|
0 |
0 |
1
|
0 |
0 |
1
|
SMC3
|
0 |
0 |
1
|
0 |
0 |
1
|
SON
|
1
|
0 |
0 |
0 |
0 |
1
|
STAG1
|
0 |
0 |
1
|
0 |
0 |
1
|
STAT1
|
1
|
0 |
0 |
0 |
0 |
1
|
STIL
|
0 |
0 |
1
|
0 |
0 |
1
|
TBCK
|
1
|
0 |
0 |
0 |
0 |
1
|
TMLHE
|
0 |
0 |
1
|
0 |
0 |
1
|
TRAPPC9
|
1
|
0 |
0 |
0 |
0 |
1
|
TRPC5
|
0 |
0 |
1
|
0 |
0 |
1
|
TUBB8
|
1
|
0 |
0 |
0 |
0 |
1
|
UNC80
|
0 |
1
|
0 |
0 |
0 |
1
|
WDR26
|
1
|
0 |
0 |
0 |
0 |
1
|
YWHAG
|
0 |
0 |
1
|
0 |
0 |
1
|
ZMYM3
|
0 |
0 |
1
|
0 |
0 |
1
|
ZNF526
|
0 |
0 |
1
|
0 |
0 |
1
|
Condition and significance breakdown #
The information on this website is not intended for direct
diagnostic use or medical decision-making without review by a
genetics professional. Individuals should not change their
health behavior solely on the basis of information contained on
this website. Neither the University of Utah nor the National
Institutes of Health independently verfies the submitted
information. If you have questions about the information
contained on this website, please see a health care
professional.